What is the foetus genetic ultrasonography?
Such testing is performed in the first trimester (from 11 weeks and 1 day to 13 weeks and day 6 of pregnancy) and in the second trimester, in mid-pregnancy (from 18 weeks to 22 weeks of pregnancy). Such a test is meaningful only when it is performed by a well-trained ultrasonographist with the use of high-class ultrasonograph.
The aims of foetus genetic ultrasonography are:
1. Early detection of congenital defects (heart defects, skeletal, nervous and urinary defects, the defects of gastrointestinal tract and others such as so-called lethal defects which minimise the survival chances of the child after birth). In some cases, the treatment of child’s defects can begin in even in the uterus. The other defects may be an indication for termination of pregnancy by caesarean section and early specialist intervention just after the birth (such as some heart defects).
Genetic ultrasonography makes sense only if it is combined with a statistical analysis of the appearance of genetic syndromes in the foetus, with the use of special programs. SOFIMED, as the first in Cracow, owns a license for a computer program called Astraia, recommended by the Foetal Medicine Foundation to assess the foetus in the first and the second trimesters of pregnancy. The program allows to calculate the risk of appearance of genetic syndromes (Down’s, Pateau and Edwards syndromes) in the foetus based on the data from ultrasound foetal examination both in the first and in the second trimester of pregnancy.
The program also provides full information about the structure of the foetus, its biometry, flow in the vessels, etc., showing also the norm range of a particular feature for the gestational age. After the examination, a patient receives a comprehensive description of the examination together with the genetic risk assessment of the appearance of genetic syndromes, a set of examination photographs and CD or DVD disc with the test recording. (visit also: www.astraia.com.pl, www.foetalmedicine.com)
2. Determination of the so-called trisomy risk (chromosome defects) which are Down, Pateau and Edwards syndromes. In particular, the most common of them, Down syndrome, provides very subtle symptoms in most cases which are known as the markers of genetic defects, such as nuchal translucency (NT), the absence of foetal nasal bone (NB) and many others. The risk of Down syndrome increases with mother’s age. The exclusion of these symptoms significantly reduces the likelihood of chromosomal defects and enables the avoidance of unnecessary fears or invasive diagnosis of the foetus for many of the mothers, especially after 35 years of age. The occurrence of these markers is not synonymous with a diagnosis of trisomy, but significantly increases its likelihood.
3. We perform the mother’s blood tests that allow further increase of the accuracy of prenatal diagnosis: PAPPA test (pregnancy-associated plasma protein A) and the triple test (the Kettering test). In combination with genetic ultrasonography, the tests give 90% sensitivity in detection of Down syndrome and other trisomies.
4. In addition, during genetic testing, we assess the amniotic fluid, umbilical cord and placenta. We also perform Doppler echocardiography of the brain vessels and the umbilical cord.